Type III bare lymphocyte syndrome associated with a novel RFXAP mutation: a case report

Summary Type III bare lymphocyte syndrome (BLS) is a severe combined immunodeficiency disease caused by the absence of MHC Class II expression associated with low expression of class I molecules. Here, we report a case with type III BLS who lacked RFXAP (Regulatory factor X‐associated protein) expre...

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Veröffentlicht in:	International journal of immunogenetics 2012-08, Vol.39 (4), p.362-364
Hauptverfasser:	Gokturk, B., Artac, H., van Eggermond, M. J., van den Elsen, P., Reisli, İ.
Format:	Artikel
Sprache:	eng
Schlagworte:	Amino acids Case reports CD4-Positive T-Lymphocytes - metabolism CD8-Positive T-Lymphocytes - metabolism Codon, Nonsense - genetics Female Genetic Association Studies Homozygote Humans Infant Lymphocyte Count Major histocompatibility complex Mutation Severe combined immunodeficiency Severe Combined Immunodeficiency - genetics Severe Combined Immunodeficiency - metabolism Transcription Factors - genetics Transcription Factors - metabolism
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Beschreibung
Zusammenfassung:	Summary Type III bare lymphocyte syndrome (BLS) is a severe combined immunodeficiency disease caused by the absence of MHC Class II expression associated with low expression of class I molecules. Here, we report a case with type III BLS who lacked RFXAP (Regulatory factor X‐associated protein) expression as a result from a novel mutation introducing a premature stopcodon in DE‐region at amino acid 73.
ISSN:	1744-3121 1744-313X
DOI:	10.1111/j.1744-313X.2012.01105.x